A Staffordshire mum has told of her heartbreak after her baby daughter died in her arms in a real-life version of a Coronation storyline.
Stephanie Hufton has spoken out about the devastation of losing little Isla to mitochondrial disease at just 18 months old.
The 31-year-old held on to her daughter at the Donna Louise Hospice as she watched her life slip away.
She is now sharing her trauma after Corrie characters Leanne Battersby and Steve McDonald’s baby Oliver fell seriously ill and it emerged that he has the life-limiting condition.
Stephanie told BurtonLive: “They say it’s rare, but it’s almost as common as cancer in children.
“In the storyline, Leanne Battersby and Steve Mcdonald’s son has been diagnosed with it.
“It’s a good thing they’re showing it, because not many people know about it, but when you’re watching your child deteriorate, knowing there’s nothing you can do about it, there’s nothing worse.
“There needs to be more funding and research and hopefully this storyline will help.”
Stephanie’s ordeal started just a few weeks after little Isla was born in February 2015 when her instinct told her something was wrong.
She said: “She started showing signs at about six weeks old.
“She wasn’t taking her bottle and was losing weight and I knew something wasn’t right within a couple of weeks of being at home.
“As a mum, it’s just an instinct you have.
“We were in and out of hospital quite a lot. She was my second baby and I knew something wasn’t right.”
Although Isla was initially able to sit up and move her arms, she was ‘very weak’ and later became ‘floppy’.
Stephanie – also mum to Lily, aged seven, and one-year-old Ella – said: “She had to be fed using a tube and she just wasn’t gaining weight.
“She was so tired all the time. She slept through the night from two weeks old and we had to set our alarm to wake up and feed her every two hours, but she didn’t want to feed.
“We had a three-year-old as well, so it was a really tough time.”
Stephanie paid to see a private specialist and it was during those consultations they first learned about mitochondrial disease.
She said: “She had all these tests done and it cost quite a bit. They fitted a peg in her stomach and gave her a muscle biopsy.
“That’s when they mentioned the mitochondrial disease, as well as a few other things that it could be.”
Isla had just turned one when doctors diagnosed her.
Her condition meant her mitochondria, which are responsible for producing energy in cells, were not working.
And the couple’s relief at an official diagnosis soon turned to terror.
Stephanie, from Burton, said: “It was a major relief when they got her diagnosis, because when we were in hospital with her, the doctors pulled my husband aside and said ‘I think your wife needs help’.
“I started to think I was going mad and it was in my head.
“When they diagnosed her, they told us her life expectancy was a few weeks to a few months. It was horrific.
“I think we already knew deep down, because she was so poorly.
“She needed medication to relax her muscles and she was so upset all the time.
“She was in pain, but couldn’t tell us what was wrong.
“My husband was amazing; he did the physio and suction, so I could do all the nice things like give her cuddles.
“Luckily his employers were amazing; they sent him home on full pay and said ‘go and be with your family’.”
Isla’s condition meant her parents had to be trained in how to care for her and use specialist equipment at home.
Her mum said: “We had to have oxygen fitted in the house.
“I’ll never forget when the doctors told us her death could come on quickly and it be nasty.
“They said she could start bleeding from anywhere, because her organs were shutting down.
“Every single morning I felt sick with worry going into her room; I can’t tell you the anxiety I felt.”
The family decided to make the most of the time they had with Isla and took her to Disneyland.
Stephanie said: “It was lovely. We made special memories and she went on a couple of rides in her wheelchair.
“She was treated like a princess and it was priceless.”
When Isla was one, her family were introduced to the Donna Louise hospice at Trentham Lakes.
It was during a stay there Isla took a turn for the worse.
Stephanie said: “The hospice was amazing. They give the best to the children.
“They’d do the nasty stuff so we could take Lily out and spend time with her.
“We went to there for a four-day-weekend and on the Friday she didn’t seem right.
“She’d normally wake early as she needed help breathing, but she hadn’t awoke by seven, so I started to worry.
“She just wouldn’t open her eyes.
“She used to love her baths, so I thought ‘I know what’ll help’. I started to run her a bath.
“I was singing to her and crying, but her eyes wouldn’t open.
“All of a sudden she opened her eyes and smiled at me. Then she closed them again. And then she started to die.
“The volunteers took Lily off to play and family came to say their goodbyes.
“I don’t know what we’d have done if we’d have been at home.
“She did really well to make it as far as she did.”
Isla died in August 2016. She was 18 months old.
Stephanie added: “I’d like to raise awareness, not only about the disease, but the Lily Foundation, which has become a family to us.”
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body (except red blood cells).
Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support organ function. When they fail, less and less energy is generated within the cell.
Cell injury and even cell death follow. If this process is repeated throughout the body, whole organ systems begin to fail.
The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected.
Symptoms vary depending on the organ(s) affected but may include seizures, atypical cerebral palsy, autistic features, developmental problems, fainting and temperature instability.
According to The Lily Foundation, the prognosis depends upon the severity of the disease and other criteria.
As more research funds are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease.
In other cases, children may not be able to see, hear, talk or walk.
Affected children may not survive beyond their teenage years.
Adult onset can result in drastic changes from an active lifestyle to a debilitating illness is a short amount of time.
Treatment plans vary from patient to patient but involve therapies, diet changes and other means to try and slow the progress of the disease.